SMN gene main transition region DNA amplification method

Abstract

The invention belongs to the technical field of medical genetics, and relates to a SMN gene main transition region DNA amplification method. The technical problem to be solved is conventional DNA of amain transition region of a SMN gene and the DNA amplification method containing methylation information. The technical scheme is characterized in that a DNA amplification primer is designed, and a 3' end of the primer does not contain nucleotide C in a corresponding genome, so that PCR amplification can be prevented from being affected by potential methylation at the end of the corresponding transition region. The stable and optimized PCR reaction conditions can be found. The main purpose of the method comprises screening for polymorphic sites of the molecular background of gene conversion in the main transition region of the SMN gene, and providing a basis for the methylation of CpG site potentially associated with DNA hypomethylation and SMN gene transformation. The method provides a prerequisite for the study of mechanisms that can relatively reduce the condition of SMA, and can be applied to find gene therapy targets.

Description

technical field [0001] Medical Genetics Background technique [0002] Spinal muscular atrophy (SMA) is the most common autosomal recessive neuromuscular disease. The SMN1 gene is the SMA-determining gene, which can cause disease through its gene deletion and small mutations in the gene. There are two highly homologous genes in the SMN gene. Copy, telomere copy (SMN1) and centromere copy (SMN2), SMN2 is a modifier gene, in some SMA individuals, gene conversion phenomenon has been found in foreign countries, exon 8 of SMN1 gene is juxtaposed with exon 7 of SMN2 gene , which is the SMN1 to SMN2 gene conversion. The heterozygous gene with transformation can make up for the influence of SMN1 gene deletion to a certain extent. It has been confirmed that gene transformation can increase the amount of SMN gene, further increase the SMN transcript, and make the symptoms of SMA patients relatively mild, but the SMN gene mainly The gene structure of the transition region SMN gene inz...

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Problems solved by technology

The heterozygous gene with transformation can make up for the influence of SMN1 gene deletion to a certain extent. It has been confirmed that gene transformation can increase the amount of SMN gene, further increase the SMN transcript, and make the symptoms of SMA patients relatively mild, but the SMN gene mainly The gene structure of the transition region SMN gene inzygote 7-exon 8 is complex, and there are few studies at home and abroad, and there is no good method for gene amplification in this region. We have summed up and found out a simple, universal and economical SMN gene transformation Conventional DNA and DNA Amplification Method Containing Methylation Information

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